Volume 109; Issue 4

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Human Genetics
Volume 109; Issue 4

Human Genetics

Volume 109; Issue 4

1

Announcement

Journal:

Year:

2001

Language:

english

File:

PDF, 5 KB

english, 2001

2

Announcement

Journal:

Year:

2001

File:

PDF, 10 KB

2001

3

Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension

Sue Rutherford, Matthew P. Johnson, Robert P. Curtain, Lyn R. Griffiths

Journal:

Year:

2001

Language:

english

File:

PDF, 74 KB

english, 2001

4

Marfan syndrome caused by a mutation inFBN1that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence

Sarah Hutchinson, Paul B. Wordsworth, Penny A. Handford

Journal:

Year:

2001

Language:

english

File:

PDF, 106 KB

english, 2001

5

Suomi-Neidon Geenit (The Genes of Maiden Finland)

Peter S. Harper

Journal:

Year:

2001

Language:

english

File:

PDF, 11 KB

english, 2001

6

Physical activity modulates the combined effect of a common variant of the lipoprotein lipase gene and smoking on serum triglyceride levels and high-density lipoprotein cholesterol in men

Mariano Sentí, Roberto Elosua, Marta Tomás, Joan Sala, Rafael Masiá, José M. Ordovás, Haiqing Shen, Jaume Marrugat

Journal:

Year:

2001

Language:

english

File:

PDF, 50 KB

english, 2001

7

Genetic predisposition to ventricular septal defect in Down syndrome

Maria Digilio, Bruno Marino

Journal:

Year:

2001

Language:

english

File:

PDF, 10 KB

english, 2001

8

Helmut Schenkel-Brunner: Human blood groups: chemical and biological basis of antigen, 2nd edn., Springer-Verlag, Wien New York. ISBN 3-211-83471-0. DM 198.–, US$ 99.0. Hardcover, 637 pages

Journal:

Year:

2001

Language:

english

File:

PDF, 11 KB

english, 2001

9

Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH

C. Joyce, N. Dennis, S. Cooper, C. Browne

Journal:

Year:

2001

Language:

english

File:

PDF, 199 KB

english, 2001

10

Satellite

Anwarul K. Hassan, Thomas Norwood, Giorgio Gimelli, Stanley M. Gartler, Scott R. Hansen

Journal:

Year:

2001

Language:

english

File:

PDF, 243 KB

english, 2001

11

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) gene

Consolato Sergi, Roland Penzel, Johannes Uhl, Saida Zoubaa, Heike Dietrich, Nadja Decker, Peter Rieger, Juergen Kopitz, Herwart F. Otto, Marika Kiessling, Michael Cantz

Journal:

Year:

2001

Language:

english

File:

PDF, 417 KB

english, 2001

12

Genetic risk factors of venous thrombosis

Rendrik F. Franco, Pieter H. Reitsma

Journal:

Year:

2001

Language:

english

File:

PDF, 92 KB

english, 2001

13

Muscular Dystrophy: methods and protocols

Roland G. Roberts

Journal:

Year:

2001

Language:

english

File:

PDF, 17 KB

english, 2001

14

A genome-wide survey of human thioredoxin and glutaredoxin family pseudogenes

Giannis Spyrou, William Wilson, Alicia C. Padilla, Arne Holmgren, Antonio Miranda-Vizuete

Journal:

Year:

2001

Language:

english

File:

PDF, 435 KB

english, 2001

15

Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

Tim P. Kerr, Caroline A. Sewry, Stephanie A. Robb, Roland G. Roberts

Journal:

Year:

2001

Language:

english

File:

PDF, 158 KB

english, 2001

16

Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared with a systematic sequencing approach

Véronique Douabin-Gicquel, Nicolas Soriano, Hélène Ferran, Florence Wojcik, Elisabeth Palierne, Sara Tamim, Thomas Jovelin, Andrew T. McKie, Jean-Yves Gall, Véronique David, Jean Mosser

Journal:

Year:

2001

Language:

english

File:

PDF, 59 KB

english, 2001